Canonical Allele Identifier: CA3644627
Gene: MYLIP HGNC NCBI
COSMIC:
COSM4999246 (not active)
MyVariant.info:
GRCh38 chr6:g.16145094A>G
GRCh37 chr6:g.16145325A>G
Revel Score:
ENST00000356840 (MANE Select) 0.135
ENST00000349606 0.135
gnomAD v2:
6:16145325 A / G
gnomAD v3:
6:16145094 A / G
gnomAD v4:
chr6-16145094-A-G
Joint Max Group AF 0.95672862 (EAS)
Genomes Max Group AF 0.92561519 (EAS)
Exomes Max Group AF 0.95839663 (EAS)
ClinVar RCV:
RCV002122681
ClinVar Variation:
1598643
dbSNP:
9370867
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.16145094A>G , CM000668.2:g.16145094A>G GRCh38
NC_000006.11:g.16145325A>G , CM000668.1:g.16145325A>G GRCh37
NC_000006.10:g.16253304A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000356840.8:c.1025A>G MANE Select ENSP00000349298.3:p.Asn342Ser
ENST00000349606.4:c.482A>G ENSP00000008686.5:p.Asn161Ser
ENST00000356840.7:c.1025A>G ENSP00000349298.3:p.Asn342Ser
NM_013262.3:c.1025A>G NP_037394.2:p.Asn342Ser
XM_005249032.2:c.860A>G XP_005249089.1:p.Asn287Ser
XM_005249033.2:c.482A>G XP_005249090.1:p.Asn161Ser
XM_005249033.3:c.482A>G XP_005249090.1:p.Asn161Ser
XM_017010789.1:c.1025A>G XP_016866278.1:p.Asn342Ser
NM_013262.4:c.1025A>G MANE Select NP_037394.2:p.Asn342Ser
Search 100 bp 5'
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